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Arthrogryposis

Gene: B3GALNT2

Green List (high evidence)

B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 17 panels

3 reviews

Alice Gardham (Genomics England)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review and additional curation.
Created: 19 Dec 2016, 1:06 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

stevens paper- 6 affetcted individuals, dystrogylycanoapthy pheenoptype. Muscle and structurl brain involvement.
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • congenital muscular dystrophies
OMIM
610194
Clinvar variants
Variants in B3GALNT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALNT2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Expert Review Green

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B3GALNT2 was created by ellenmcdonagh